Ontario Genetic Test Directory

This directory lists diagnostic genetic tests available in Ontario for rare and inherited diseases, including molecular genetic, constitutional cytogenetic and pharmacogenetic tests.

This directory does not include:

Please contact your local genetics laboratory to confirm availability of testing, patient eligibility or sample requirements.

See Genetics Guidance for evidence-based clinical guidance on genetic testing in Ontario, and the Ontario Genetics Clinic Directory for a list of genetics clinics in Ontario.

The information in this directory is intended for informational purposes only and may not reflect all recent updates.

Displaying Results

13 Results

Alpha-1-Antitrypsin Deficiency

Category: Respiratory
Subcategory: Alpha-1-Antitrypsin Deficiency
Test Type: Single Gene

Cystic Fibrosis

Category: Fertility/Reproductive, Respiratory
Subcategory: Cystic Fibrosis
Test Type: Targeted Variant

Cystic Fibrosis

Category: Respiratory
Subcategory: Cystic Fibrosis
Test Type: Single Gene

Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4)

Category: Audiology
Subcategory: Non-Syndromic Hearing Loss
Test Type: Gene Panel

Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel

Category: Audiology
Subcategory: Common and Non-Syndromic Hearing Loss
Test Type: Gene Panel

Hereditary Hearing Loss: Stickler Syndrome

Category: Audiology, Connective Tissue
Subcategory: Stickler Syndrome
Test Type: Gene Panel

Hereditary Hearing Loss: Syndromic Hearing Loss

Category: Audiology
Subcategory: Syndromic Hearing Loss
Test Type: Gene Panel

Hereditary Hearing Loss: Usher Syndrome

Category: Audiology
Subcategory: Usher Syndrome
Test Type: Gene Panel

Microarray Analysis

Category: Chromosomal Anomalies, Multiple Congenital Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic

Microcephaly, Amish type

Category: Multiple Congenital Anomalies
Subcategory: Microcephaly
Test Type: Single Gene